[Acheiropodia: first case report in Argentina] - PubMed (original) (raw)
Case Reports
. 2015 Oct;113(5):e299-303.
doi: 10.5546/aap.2015.e299.
[Article in Spanish]
Affiliations
- PMID: 26294167
- DOI: 10.5546/aap.2015.e299
Free article
Case Reports
[Acheiropodia: first case report in Argentina]
[Article in Spanish]
Mariel Ormazabal et al. Arch Argent Pediatr. 2015 Oct.
Free article
Abstract
Acheiropodia is a very rare disease with autosomal recessive inheritance characterized by limb reduction defects. It has been described mainly in Brazil. The aim of this report is to describe the first reported cases in Argentina in two affected twins. Patients were reported to the National Registry of Congenital Anomalies of Argentina (RENAC). Both twins had limb reduction defect including hands, forearms, feet and fibulae. These patients are the first reported cases of acheiropodia syndrome in Argentina. Immigration from Brazil could explain this case in our population.
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